Varaico: Literature-Extracted Genetic Variants

Gene:LRCH4
Variant:p.L126L
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LRCH4

NM_002319.5:p.L126L

Associated Papers

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

Chong JX et al.

American Journal of Human Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."